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Disease-Specific Indications and Outcomes

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Research Spotlight
  • Allogeneic HCT should be considered as first-line treatment for SAA

    September 2018

  • Consensus Statement on HCT Late Effects Screening Guidelines in Hemoglobinopathies

    June 2018

  • HCT Can Be an Effective Treatment for Young Adults with Immune Deficiencies

    April 2018

  • Transplant Indications and Outcomes
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Patient Resources

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Inherited Metabolic Disorders

Inherited metabolic disorders are caused by genetic mutation, creating an enzyme deficiency that leads to an inability to breakdown metabolic waste products. The result is a progressive cellular accumulation of toxic substances, which damages organs, tissues, and the central nervous system.

If left untreated, these disorders result in a progressive disease with neurological and psychomotor retardation, skeletal abnormalities, and life-threatening cardiac and pulmonary complications. [1,2] Allogeneic hematopoietic cell transplantation (HCT) can arrest this progressive deterioration by introducing enzyme-producing cells that can cross the blood-brain barrier. [3]

A study of HCT in 217 patients with Hurler syndrome found that preservation of cognitive function at the time of transplant and a younger age at transplantation were major predictors for superior post-transplant cognitive development. [4]

Allogeneic HCT can treat:

  • Hurler syndrome (MPS I)
  • Hunter syndrome (MPS II) [5]
  • Maroteaux-Lamy syndrome (MPS VI)
  • Sly syndrome (MPS VII)
  • Cerebral X-linked adrenoleukodystrophy
  • Globoid-cell leukodystrophy (Krabbe disease)
  • Metachromatic leukodystrophy
  • Gaucher disease
  • Fucosidosis
  • Alpha-mannosidosis
  • Aspartylglycosaminuria
  • Mucolipidosis II (I-cell disease)
  • Wolman syndrome

Outcomes

Review outcomes of allogeneic transplantation in patients with inherited metabolic disorders below. View additional slides showing demographic data and transplant trends.

Data in this section have been prepared by CIBMTR® (Center for International Blood and Marrow Transplant Research), our research program.

Figure 1: Pediatric Hurler Syndrome Survival, Unrelated Marrow HCT

Pediatric Hurler Syndrome Survival, Unrelated Marrow HCT

Download slide "Pediatric Hurler Syndrome Survival, Unrelated Marrow HCT"

Figure 2: Pediatric ALD, MLD Survival, Unrelated Marrow HCT

Pediatric ALD, MLD Survival, Unrelated Marrow HCT

Download slide "Pediatric ALD, MLD Survival, Unrelated Marrow HCT"

Referral Timing Guidelines

These guidelines highlight disease categories that include patients at risk for disease progression and who should be referred for a consultation for transplantation. [6]

Transplant Consultation Guidelines: Inherited Metabolic Disorders

Including Hurler syndrome, adrenoleukodystrophy and others

  • At diagnosis or if detected on newborn screening
Download as slides (PPT)
View complete Referral Timing Guidelines

 

References

  1. Domen J, Gandy K, Dalal J. Emerging uses for pediatric hematopoietic stem cells. Pediatr Res. 2012; 71(4-2): 411-417. Access
  2. Boelens JJ, Orchard PJ, Wynn RF. Transplantation in inborn errors of metabolism: current considerations and future perspectives. Brit J Haematol. 2014; 167(3): 293-303. Access
  3. Prasad VK, Kurtzberg J. Transplant outcomes in mucopolysaccharidoses. Sem Hematol. 2010; 47(1): 59-69. Access
  4. Aldenhoven M, Wynn RF, Orchard PJ, et al. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood. 2015; 125(13): 2164-2172. Access
  5. Kubaski F, Yabe H, Suzuki Y, et al. Hematopoietic stem cell transplantation for patients with mucopolysaccharidosis II. Biol Blood Marrow Transplant. 2017; 23(10): 1795-1803. Access
  6. NMDP/Be The Match and ASBMT Recommended Timing for Transplant Consultation. Download (PDF)
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Slides may be downloaded and used without permission for one-time presentation or personal use.  For publication, use in print or web, or repeated presentations, please submit a Copyright Request Form.

Transplant Indications and Outcomes

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Transplant Therapy and Donor Matching

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Resources

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